FDA Takes Genomic Testing a Step Further with Regulatory Strategies & Public Workshops


FDA has announced plans to develop diagnostic systems for the use of next generation sequencing (NGS) technologies, furthering the Precision Medicine Initiative (PMI) ordered by President Obama. The goal and mission of the PMI is “to enable a new era of medicine through research, technology, and policies that empower patients, researchers, and providers to work together toward development of individualized treatments.” This is precisely what FDA plans to do by developing regulatory strategies for NGS-based clinical test.

Next generation sequencing refers to the grouping of millions of small fragments of DNA that can then be sequenced at the same time, creating enormous amounts of data. This is a significant advancement because it enables the sequencing of an entire genome, as well as created the ability to diagnose, and possibly predict, multiple conditions using only one test. This advancement s derives more comprehensive genetic information on individuals at a relatively inexpensive price point.

Starting last year, FDA has been seeking input on how a regulatory system could be developed for use in the review and regulation of NGS technologies. After running into several issues, releasing a discussion paper on the data created by these tests, and holding a public workshop, FDA has announced its plans to hold two additional workshops. These workshops will be held on November 12 and 13 and will focus on developing a regulatory system for NGS technologies.

On November 12, the workshop will address the standards for analytical performance evaluation of NGS. FDA is hoping to gain feedback as well as discuss “possible analytical standards and approaches to develop or build on existing standardization efforts in order to optimize its regulatory approach to NGS-based in vitro diagnostic tests (IVDs).” The standards to be developed will be used to ensure accurate and reliable test results are produced by test developers.

On November 13, FDA will cover the “current challenges in clinical validation of NGS tests.” The purpose of this workshop is for the Agency to get comments and feedback on how it can “use curated databases containing information about human genetic variation as sources of valid clinical evidence” for its oversight of the NGS-based IVDs. FDA acknowledges that a “single company, lab, or institution is unlikely to have enough information to definitively determine the clinical importance of test results,” but is hoping that by compiling all of the information into a database, a reliable source of scientific evidence will be created.

FDA has announced plans to publish additional discussion papers that will be based on public input received by the Agency. These documents will “provide a high level overview of regulatory considerations for the development of analytical standards and the use of curated clinical databases to support NGS test submissions” and will be available prior to the two workshops.